mogs-1

Caenorhabditis elegans

Predicted to enable Glc3Man9GlcNAc2 oligosaccharide glucosidase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to be located in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIb. Is an ortholog of human MOGS (mannosyl-oligosaccharide glucosidase).

pfk-1.2

Caenorhabditis elegans

Predicted to enable 6-phosphofructokinase activity; identical protein binding activity; and small molecule binding activity. Predicted to be involved in canonical glycolysis; fructose 1,6-bisphosphate metabolic process; and fructose 6-phosphate metabolic process. Predicted to be located in cytoplasm. Predicted to be part of 6-phosphofructokinase complex. Human ortholog(s) of this gene implicated in glycogen storage disease VII. Is an ortholog of human PFKL (phosphofructokinase, liver type); PFKM (phosphofructokinase, muscle); and PFKP (phosphofructokinase, platelet).

pfk-1.1

Caenorhabditis elegans

Predicted to enable 6-phosphofructokinase activity; identical protein binding activity; and small molecule binding activity. Predicted to be involved in canonical glycolysis; fructose 1,6-bisphosphate metabolic process; and fructose 6-phosphate metabolic process. Predicted to be located in cytoplasm. Predicted to be part of 6-phosphofructokinase complex. Expressed in germ line; hypodermis; neurons; and pharynx. Human ortholog(s) of this gene implicated in glycogen storage disease VII. Is an ortholog of human PFKL (phosphofructokinase, liver type) and PFKM (phosphofructokinase, muscle).

Manea

Homo sapiens

N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]

Kcnj2

Homo sapiens

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]

Kcnj2

Rattus norvegicus

Predicted to enable identical protein binding activity; phosphatidylinositol-4,5-bisphosphate binding activity; and voltage-gated potassium channel activity. Involved in cellular response to mechanical stimulus; positive regulation of potassium ion transmembrane transport; and regulation of cardiac muscle cell contraction. Located in several cellular components, including T-tubule; dendritic spine; and intercalated disc. Is active in glutamatergic synapse and postsynaptic membrane. Used to study myocardial infarction. Human ortholog(s) of this gene implicated in Andersen-Tawil syndrome; familial atrial fibrillation; familial periodic paralysis; and short QT syndrome. Orthologous to human KCNJ2 (potassium inwardly rectifying channel subfamily J member 2); PARTICIPATES IN neuron-to-neuron signaling pathway via the chemical synapse; acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; acetamide; ammonium chloride.